{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:51:16Z","timestamp":1788306676091,"version":"build-2803163510"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"9","funder":[{"DOI":"10.13039\/100012046","name":"Vietnam Academy of Science and Technology","doi-asserted-by":"publisher","award":["VAST02.01\/19-20"],"award-info":[{"award-number":["VAST02.01\/19-20"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0208_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Familial partial lipodystrophy type 2 is the most well-known subtype of lipodystrophy. We describe for the first time the phenotype of a case with lipodystrophy, who carried heterozygous mutation c.G1394A (p.G465D) in the <jats:italic>LMNA<\/jats:italic> gene. <\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0208_abs_003\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 17-year-old girl was diagnosed with FPLD2 due to severe loss of subcutaneous fat in the extremities, buttocks and metabolic complications. However, there was no accumulation of fat over her face and neck, which is remarkably different from the FPLD2 clinical phenotypes. Two years of surveillance showed the challenge due to unable control of insulin resistance, glucose and lipid metabolism. Whole exome sequencing revealed the heterozygous mutation c.1394G&gt;A at exon 11 of <jats:italic>LMNA<\/jats:italic> gene (p.G465D).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0208_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our case displayed an atypical phenotype of FPLD2 with metabolic anomalies, not cardiovascular diseases. The difficulties of medical management in this case pointed out the urgent need for more effective treatment for individuals suffering from this rare disease.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0208","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T21:14:05Z","timestamp":1657574045000},"page":"1206-1210","source":"Crossref","is-referenced-by-count":2,"title":["Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by <i>LMNA<\/i> p.G465D mutation: a first clinical characterization and two-year follow-up"],"prefix":"10.1515","volume":"35","author":[{"given":"Nhung Phuong","family":"Vu","sequence":"first","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai Thi","family":"Tran","sequence":"additional","affiliation":[{"name":"Hanoi Medical University Hospital, Hanoi Medical University , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nga Bich","family":"Vu","sequence":"additional","affiliation":[{"name":"Hanoi Medical University Hospital, Hanoi Medical University , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thuong Thi Huyen","family":"Ma","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ton Dang","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology , Hanoi , Vietnam"},{"name":"Graduate University of Science and Technology, Vietnam Academy of Science and Technology , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai Van","family":"Nong","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology , Hanoi , Vietnam"},{"name":"Graduate University of Science and Technology, Vietnam Academy of Science and Technology , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ha Hai","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology , Hanoi , Vietnam"},{"name":"Graduate University of Science and Technology, Vietnam Academy of Science and Technology , Hanoi , Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"2023033121130456166_j_jpem-2022-0208_ref_001","doi-asserted-by":"crossref","unstructured":"Brown, RJ, Araujo-Vilar, D, Cheung, PT, Dunger, D, Garg, A, Jack, M, et al.. 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Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A\/C mutations. Clin Genet 2010;78:66\u201373. https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01350.x.","DOI":"10.1111\/j.1399-0004.2009.01350.x"},{"key":"2023033121130456166_j_jpem-2022-0208_ref_009","doi-asserted-by":"crossref","unstructured":"van Rijsingen, IA, Arbustini, E, Elliott, PM, Mogensen, J, Hermans-van Ast, JF, van der Kooi, AJ, et al.. Risk factors for malignant ventricular arrhythmias in lamin a\/c mutation carriers a European cohort study. J Am Coll Cardiol 2012;59:493\u2013500. https:\/\/doi.org\/10.1016\/j.jacc.2011.08.078.","DOI":"10.1016\/j.jacc.2011.08.078"},{"key":"2023033121130456166_j_jpem-2022-0208_ref_010","doi-asserted-by":"crossref","unstructured":"Brown, RJ, Oral, EA, Cochran, E, Araujo-Vilar, D, Savage, DB, Long, A, et al.. Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. Endocrine 2018;60:479\u201389. https:\/\/doi.org\/10.1007\/s12020-018-1589-1.","DOI":"10.1007\/s12020-018-1589-1"},{"key":"2023033121130456166_j_jpem-2022-0208_ref_011","doi-asserted-by":"crossref","unstructured":"Oral, EA, Gorden, P, Cochran, E, Araujo-Vilar, D, Savage, DB, Long, A, et al.. Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy. Endocrine 2019;64:500\u201311. https:\/\/doi.org\/10.1007\/s12020-019-01862-8.","DOI":"10.1007\/s12020-019-01862-8"},{"key":"2023033121130456166_j_jpem-2022-0208_ref_012","doi-asserted-by":"crossref","unstructured":"Nagayama, A, Ashida, K, Watanabe, M, Moritaka, K, Sonezaki, A, Kitajima, Y, et al.. Case report: metreleptin and SGLT2 inhibitor combination therapy is effective for acquired Incomplete lipodystrophy. 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